Canonical Allele Identifier: CA2326057828

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843905_17843906delinsAG , CM000681.2:g.17843905_17843906delinsAG	GRCh38
NC_000019.9:g.17954714_17954715delinsAG , CM000681.1:g.17954714_17954715delinsAG	GRCh37
NC_000019.8:g.17815714_17815715delinsAG	NCBI36
NG_007273.1:g.9086_9087delinsCT , LRG_77:g.9086_9087delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.185-6_185-5delinsCT	ENSP00000513006.1:n.185-6_185-5delinsCT
ENST00000458235.7:c.185-6_185-5delinsCT MANE Select	ENSP00000391676.1:n.185-6_185-5delinsCT
ENST00000458235.5:c.185-6_185-5delinsCT	ENSP00000391676.1:n.185-6_185-5delinsCT
ENST00000526008.5:n.285-6_285-5delinsCT
ENST00000527031.5:n.275-6_275-5delinsCT
ENST00000527670.5:c.185-6_185-5delinsCT	ENSP00000432511.1:n.185-6_185-5delinsCT
ENST00000528293.1:n.323+328_323+329delinsCT
ENST00000534444.1:c.185-6_185-5delinsCT	ENSP00000436421.1:n.185-6_185-5delinsCT
NM_000215.3:c.185-6_185-5delinsCT , LRG_77t1:c.185-6_185-5delinsCT	NP_000206.2:n.185-6_185-5delinsCT
XM_005259896.2:c.314-6_314-5delinsCT	XP_005259953.1:n.314-6_314-5delinsCT
XM_006722745.2:c.185-6_185-5delinsCT	XP_006722808.1:n.185-6_185-5delinsCT
XM_011527990.1:c.314-6_314-5delinsCT	XP_011526292.1:n.314-6_314-5delinsCT
XM_011527991.1:c.314-6_314-5delinsCT	XP_011526293.1:n.314-6_314-5delinsCT
XR_430137.2:n.324-6_324-5delinsCT
XM_005259896.3:c.314-6_314-5delinsCT	XP_005259953.1:n.314-6_314-5delinsCT
XM_011527991.2:c.314-6_314-5delinsCT	XP_011526293.1:n.314-6_314-5delinsCT
NM_000215.4:c.185-6_185-5delinsCT MANE Select	NP_000206.2:n.185-6_185-5delinsCT